Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

Charge selectivity forms the basis of cellular excitation or inhibition by Cys-loop ligand-gated ion channels (LGICs), and is essential for physiological receptor function. There are no reports of naturally occurring mutations in LGICs associated with the conversion of charge selectivity. Here, we r...

Descrizione completa

Dettagli Bibliografici
Autori principali:	Cetin, H, Epstein, M, Liu, W, Maxwell, S, Rodriguez Cruz, P, Cossins, J, Vincent, A, Webster, R, Biggin, P, Beeson, D
Natura:	Journal article
Lingua:	English
Pubblicazione:	National Academy of Sciences 2019

Documenti analoghi

The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle
di: Hakan Cetin, et al.
Pubblicazione: (2020-09-01)

Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
di: Webster, R, et al.
Pubblicazione: (2002)

Distinct phenotypes of congenital acetylcholine receptor deficiency.
di: Burke, G, et al.
Pubblicazione: (2004)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
di: Webster, R, et al.
Pubblicazione: (2012)

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
di: Webster, R, et al.
Pubblicazione: (2012)

The effect of dok-7 on acetylcholine receptor clustering in C2C12 cells
di: Spearman, H, et al.
Pubblicazione: (2008)

Antibodies to clustered acetylcholine receptor and thymic changes in seronegative myasthenia gravis
di: Leite, M, et al.
Pubblicazione: (2007)

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
di: Chang, T, et al.
Pubblicazione: (2016)

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
di: Müller, J, et al.
Pubblicazione: (2006)

Fluorescent receptors to light up the neuromuscular junction
di: Cossins, J, et al.
Pubblicazione: (2011)

IgG1 antibodies to acetylcholine receptors in 'seronegative' myasthenia gravis.
di: Leite, M, et al.
Pubblicazione: (2008)

The muscle-type nicotinic acetylcholine receptor in health and disease
di: Cetin, H
Pubblicazione: (2019)

The fourth transmembrane domain of the muscle nicotinic acetylcholine receptor epsilon subunit is not required for channel function
di: Beeson, D, et al.
Pubblicazione: (2000)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface
di: Webster, R, et al.
Pubblicazione: (2014)

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
di: Webster, R, et al.
Pubblicazione: (2014)

Acetylcholine Receptor and Muscle-Specific Kinase Autoantibodies
di: Huda, S, et al.
Pubblicazione: (2013)

The conformation of the main immunogenic region on the alpha-subunit of muscle acetylcholine receptor is affected by neighboring receptor subunits.
di: Fostieri, E, et al.
Pubblicazione: (2000)

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
di: Brownlow, S, et al.
Pubblicazione: (2001)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
di: Zoltowska, K, et al.
Pubblicazione: (2013)

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
di: Zoltowska, K, et al.
Pubblicazione: (2013)

Presence and pathogenic relevance of antibodies to clustered acetylcholine receptor in ocular and generalized myasthenia gravis.
di: Jacob, S, et al.
Pubblicazione: (2012)

IgG from "seronegative" myasthenia gravis patients binds to a muscle cell line, TE671, but not to human acetylcholine receptor.
di: Blaes, F, et al.
Pubblicazione: (2000)

Arthrogryposis multiplex congenita associated with congenital myasthenic syndrome due to mutations in the acetylcholine receptor delta subunit
di: Brownlow, S, et al.
Pubblicazione: (2000)

An acetylcholine receptor keeps muscles in balance.
di: Rachel Jones
Pubblicazione: (2009-12-01)

Allosteric contributions of muscle nicotinic acetylcholine receptor residues in small-molecule interactions, disease and subunit assembly
di: Epstein, M
Pubblicazione: (2019)

The alpha7 nicotinic acetylcholine receptor: molecular modelling, electrostatics, and energetics.
di: Amiri, S, et al.
Pubblicazione: (2005)

A7DB: a relational database for mutational, physiological and pharmacological data related to the α7 nicotinic acetylcholine receptor
di: Buckingham, S, et al.
Pubblicazione: (2005)

Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.
di: Shelley, C, et al.
Pubblicazione: (2003)

Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis.
di: Bonifati, D, et al.
Pubblicazione: (2004)

Myasthenia gravis seronegative for acetylcholine receptor antibodies.
di: Vincent, A, et al.
Pubblicazione: (2008)

Edit, cut and paste in the nicotinic acetylcholine receptor gene family of Drosophila melanogaster.
di: Sattelle, D, et al.
Pubblicazione: (2005)

CLINICAL FEATURES AND FOLLOW-UP OF 13 PATIENTS WITH ANTIBODIES AGAINST NMDA RECEPTORS
di: Irani, SR, et al.
Pubblicazione: (2009)

Structural studies of acetylcholine bound to the nicotinic acetylcholine receptor
di: Williamson, P, et al.
Pubblicazione: (2003)

Antibodies to acetylcholine receptor in parous women with myasthenia: evidence for immunization by fetal antigen.
di: Matthews, I, et al.
Pubblicazione: (2002)

Inhibition of acetylcholine receptor function by seronegative myasthenia gravis non-IgG factor correlates with desensitisation.
di: Spreadbury, I, et al.
Pubblicazione: (2005)

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.
di: Cossins, J, et al.
Pubblicazione: (2004)

Wnt proteins regulate acetylcholine receptor clustering in muscle cells
di: Zhang Bin, et al.
Pubblicazione: (2012-02-01)

Acetylcholine receptor subunit expression in Huntington's disease mouse muscle
di: Briana Simpson, et al.
Pubblicazione: (2021-12-01)

The nicotinic acetylcholine receptor: from molecular model to single-channel conductance.
di: Adcock, C, et al.
Pubblicazione: (2000)

Overexpression of rapsyn in rat muscle increases acetylcholine receptor levels in chronic experimental autoimmune myasthenia gravis.
di: Martínez-Martínez, P, et al.
Pubblicazione: (2007)